Canonical Allele Identifier: CA8151281
Community Standard Title: NM_001270974.2(HYDIN):c.1797C>G (p.Tyr599Ter)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71069444G>C , CM000678.2:g.71069444G>C GRCh38
NC_000016.9:g.71103347G>C , CM000678.1:g.71103347G>C GRCh37
NG_033116.1:g.166279C>G
NG_033116.2:g.166279C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.1797C>G MANE Select NP_001257903.1:p.Tyr599Ter
ENST00000393567.7:c.1797C>G MANE Select ENSP00000377197.2:p.Tyr599Ter
NM_001198542.1:c.1878C>G NP_001185471.1:p.Tyr626Ter
NM_001198543.1:c.1848C>G NP_001185472.1:p.Tyr616Ter
NM_001270974.1:c.1797C>G NP_001257903.1:p.Tyr599Ter
NM_017558.4:c.1797C>G NP_060028.2:p.Tyr599Ter
NM_017558.5:c.1797C>G NP_060028.2:p.Tyr599Ter
ENST00000288168.14:c.1848C>G ENSP00000288168.10:p.Tyr616Ter
ENST00000321489.9:c.1797C>G ENSP00000314736.5:p.Tyr599Ter
ENST00000393552.6:c.651C>G ENSP00000463767.1:p.Tyr217Ter
ENST00000393567.6:c.1797C>G ENSP00000377197.2:p.Tyr599Ter
ENST00000538248.5:c.1878C>G ENSP00000444970.1:p.Tyr626Ter
ENST00000539447.5:c.1500C>G
ENST00000541601.5:c.1848C>G ENSP00000437341.1:p.Tyr616Ter
ENST00000542890.1:c.2C>G
ENST00000543639.1:n.465C>G
ENST00000545230.5:c.1206C>G ENSP00000463422.1:p.Tyr402Ter
XM_006721206.2:c.1848C>G XP_006721269.1:p.Tyr616Ter
XM_006721206.3:c.1848C>G XP_006721269.1:p.Tyr616Ter
XM_011523146.1:c.1980C>G XP_011521448.1:p.Tyr660Ter
XM_011523146.2:c.1980C>G XP_011521448.1:p.Tyr660Ter
XM_011523147.1:c.1950C>G XP_011521449.1:p.Tyr650Ter
XM_011523148.1:c.1899C>G XP_011521450.1:p.Tyr633Ter
XM_011523149.1:c.1899C>G XP_011521451.1:p.Tyr633Ter
XM_011523150.1:c.1899C>G XP_011521452.1:p.Tyr633Ter
XM_011523151.1:c.1878C>G XP_011521453.1:p.Tyr626Ter
XM_011523151.2:c.1878C>G XP_011521453.1:p.Tyr626Ter
XM_017023346.2:c.1917C>G XP_016878835.1:p.Tyr639Ter
XM_017023347.1:c.9C>G XP_016878836.1:p.Tyr3Ter
XM_017023348.1:c.9C>G XP_016878837.1:p.Tyr3Ter